PMC Links for Nucleotide (Select 1677537785) - PMC

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Items: 2

Select item 58791391.

Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis

Elizabeth Blue, Tin L. Louie, Jessica X. Chong, Scott J. Hebbring, Kathleen C. Barnes, Nicholas M. Rafaels, Michael R. Knowles, Ronald L. Gibson, Michael J. Bamshad, , U.S. National Heart, Lung, and Blood Institute “Grand Opportunity” Exome Sequencing Project (LungGO)

Ann Am Thorac Soc. 2018 Apr; 15(4): 440–448. doi: 10.1513/AnnalsATS.201706-451OC

PMCID:: PMC5879139

Abstract Article PDF–771K

Select item 44919882.

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

Hanan E. Shamseldin, Maha Tulbah, Wesam Kurdi, Maha Nemer, Nada Alsahan, Elham Al Mardawi, Ola Khalifa, Amal Hashem, Ahmed Kurdi, Zainab Babay, Dalal K. Bubshait, Niema Ibrahim, Firdous Abdulwahab, Zuhair Rahbeeni, Mais Hashem, Fowzan S. Alkuraya

Genome Biol. 2015; 16(1): 116. Published online 2015 Jun 3. doi: 10.1186/s13059-015-0681-6